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Organic Acidemias/Acidurias Precision Panel

Overview Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of , amino acids and oxidation. These enzymatic defects lead to an accumulation of organic acids in tissues and their subsequent excretion in . As patients age, the natural progression of organic acidemias lead to intellectual difficulties, increased risk for neurologic complications such as -like episodes and cardiac complications among others. All organic acidurias are inherited in an autosomal recessive pattern.

The Igenomix Organic Acidemias/Acidurias Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of and high anion gap metabolic ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indications The Igenomix Organic Acidemias/Acidurias Precision Panel is indicated for those patients with a clinical suspicion or diagnosis an with or without the following manifestations:

- Developmental delay - Mental retardation - - Lethargy - - - - Failure to thrive - Hepatomegaly - Respiratory distress - Cardiac dysfunction

Clinical Utility The clinical utility of this panel is:

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- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of treatment with a multidisciplinary team in the form of nutritional , correction of fluid and electrolyte imbalances, adequate cerebral perfusion. - Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. - Improvement of delineation of -phenotype correlation.

Genes & Diseases

% GENE OMIM DISEASES INHERITANCE* HGMD** COVERAGE (20X) ABCD4 Methylmalonic Aciduria And AR 100 8 of 8 ACAD8 Isobutyryl-CoA Dehydrogenase Deficiency AR 100 35 of 35 ACAD9 Acyl-CoA Dehydrogenase Family AR 100 62 of 62 ACADL Long Chain Acyl-CoA Dehydrogenase Deficiency - 100 1 of 1 ACADM Medium Chain Acyl-CoA Dehydrogenase Deficiency AR 99.98 181 of 181 ACADS Shot-Chain Acyl-coa Dehydrogenase Deficiency AR 100 84 of 84 ACADSB 2-Methylbutyryl-CoA Dehydrogenase Deficiency AR 100 21 of 21 ACADVL Very Long Chain Acyl-CoA Dehydrogenase Deficiency AR 100 329 of 329 Alpha-Methylacetoacetic Aciduria, Beta-Ketothiolase ACAT1 AR 100 116 of 116 Deficiency ACSF3 Combined Malonic And Methylmalonic Aciduria AR 100 27 of 27 ADK Due To Adenosine Kinase Deficiency AR 100 15 of 16 Congenital -Hypertrophic Cardiomyopathy- AGK AR 99.98 33 of 33 Mitochondrial Myopathy Syndrome AGXT Primary Hyperoxaluria Type 1 AR 99.99 210 of 211 Hypermethioninemia With S-Adenosylhomocysteine AHCY AR 100 11 of 11 Deficiency ALDH4A1 Type II AR 100 7 of 7 ALDH5A1 Succinic Semialdehyde Dehydrogenase Deficiency AR 95.41 65 of 69 ALDOB Hereditary Fructose Intolerance AR 100 61 of 65 AMN Imerslund-Grasbeck Syndrome AR 94.02 31 of 32 AMT AR 99.98 94 of 96 ARG1 AR 100 66 of 68 ASL Argininosuccinic Aciduria AR 100 170 of 170 ASPA Canavan Disease AR 99.56 93 of 94 ASS1 Classic AR 100 150 of 153 Harel-Yoon Syndrome, Pontocerebellar Hypoplasia, ATAD3A AD,AR 90.98 6 of 8 Hypotonia, And Respiratory Insufficiency Syndrome Mitochondrial Complex V (ATP ) Deficiency Nuclear ATP5F1D AR 98.19 NA of NA Type 5 Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear ATP5F1E AR 100 NA of NA Type 3 Leber Optic Atrophy, Neuropathy, , And Retinitis ATP6 Pigmentosa, Mitochondrial DNA-Associated , MI na na Narp Syndrome ATP7B Wilson Disease AR 99.97 989 of 1000 ATPAF2 ATPase Deficiency Nuclear-Encoded AR 100 2 of 2 AUH 3-Methylglutaconic Aciduria Type I AR 99.99 11 of 11 BCKDHA Maple Syrup Urine Disease AR 98.41 96 of 97 BCKDHB Maple Syrup Urine Disease AR 99.99 122 of 123 Bjornstad Syndrome, Gracile Syndrome, Leigh Syndrome, BCS1L AR,MI 99.96 40 of 42 Mitochondrial Complex III Deficiency BTD Multiple Carboxylase Deficiency AR 100 261 of 262 CAMKMT 2p21 Microdeletion Syndrome - 99.99 NA of NA Neonatal Severe Primary Hyperparathyroidism, Familial CASR AD,AR 100 445 of 446 Hypocalciuric Hypercalcemia CBS Classic Homocystinuria AR 99.98 192 of 194 CCN6 Progressive Pseudorheumatoid Arthropathy Of Childhood AR 100 NA of NA Methylmalonic Aciduria Due To Transcobalamin Receptor CD320 AR 89 2 of 2 Defect

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Dent Disease, X-linked Recessive Hypophosphatemic Rickets, CLCN5 Nephrolithiasis With Renal Failure , Low Molecular Weight X,XR,G 99.39 NA of NA Proteinuria With Hypercalciuria And Nephrocalcinosis CLPB 3-Methylglutaconic Aciduria Type 7 AR 96 26 of 26 COA3 Mitochondrial Complex IV Deficiency AR,MI 100 2 of 2 Mitochondrial Complex IV Deficiency, Non-Progressive COA8 Predominantly Posterior Cavitating Leukoencephalopathy AR,MI 86.26 4 of 5 With Peripheral Neuropathy COX10 Leigh Syndrome, Mitochondrial Complex IV Deficiency AR,MI 100 13 of 13 COX14 Mitochondrial Complex IV Deficiency AR,MI 100 1 of 1 COX20 Mitochondrial Complex IV Deficiency AR,MI 99.88 5 of 5 COX6B1 Mitochondrial Complex IV Deficiency AR,MI 100 3 of 3 COX8A Mitochondrial Complex IV Deficiency AR,MI 100 1 of 1 CPS1 Carbamoyl Synthetase I Deficiency AR 100 274 of 278 CPT2 Infantile Palmitoyltransferase II AD,AR 99.99 116 of 116 CTH AR 100 8 of 8 Adult Nonnephropathic, Nephropathic Infantile CTNS AR 100 148 of 153 Cystinosis CUBN Megaloblastic AR 100 53 of 54 CYP27B1 Hypocalcemic D-Dependent Rickets AR 98.45 80 of 80 CYP2R1 Hypocalcemic Vitamin D-Dependent Rickets AR 99.22 6 of 6 D2HGDH D-2-Hydroxyglutaric Aciduria AR 100 42 of 42 DBT Maple Syrup Urine Disease AR 100 73 of 75 DDB2 Xeroderma Pigmentosum Complementation Group E AR 100 17 of 17 Progressive External Ophthalmoplegia With Mitochondrial DGUOK AR 100 68 of 70 DNA Deletions 2-Aminoadipic 2-Oxoadipic Aciduria, Charcot-Marie-Tooth DHTKD1 AD,AR 99.94 25 of 25 Disease, Axonal Type 2q Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate DLD AR 100 26 of 26 Dehydrogenase E3 Deficiency DMGDH Dimethylglycine Dehydrogenase Deficiency AR 99.77 2 of 2 3-Methylglutaconic Aciduria Type V, Dilated Cardiomyopathy DNAJC19 AR 100 6 of 6 With Ataxia EHHADH Fanconi Renotubular Syndrome AD 99.96 1 of 1 Cerebrooculofacioskeletal Syndrome, Xeroderma ERCC2 AR 100 102 of 102 Pigmentosum Complementation Group D Photosensitive Trichothiodystrophy, Xeroderma Pigmentosum ERCC3 AR 99.98 24 of 24 Complementation Group B Fanconi Anemia Complementation Group Q, Xeroderma ERCC4 Pigmentosum Complementation Group F, Cockayne AR 99.68 69 of 72 Syndrome Type 1 Cerebrooculofacioskeletal Syndrome, Xeroderma ERCC5 AR 99.94 58 of 58 Pigmentosum, Complementation Group G ETFA Multiple Acyl-CoA Dehydrogenase Deficiency AR 92.33 32 of 32 ETFB Multiple Acyl-CoA Dehydrogenase Deficiency AR 100 21 of 21 ETFDH Multiple Acyl-CoA Dehydrogenase Deficiency AR 100 221 of 222 ETHE1 Ethylmalonic Encephalopathy AR 100 32 of 33 FAH Type 1 AR 100 107 of 108 FARS2 Combined Oxidative Phosphorylation Deficiency AR 99.98 23 of 23 FH Deficiency AD,AR 100 229 of 232 Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide FLAD1 AR 97.13 13 of 14 Synthetase Deficiency FTCD Formiminotransferase Deficiency AR 99.83 17 of 17 GALE Galactose Epimerase Deficiency AR 100 29 of 29 GALT Classic AR 100 350 of 350 Cerebral Deficiency Syndrome, Fanconi Renotubular GATM AD,AR 99.98 21 of 21 Syndrome GCDH Glutaric Acidemia, Glutaryl-CoA Dehydrogenase Deficiency AR 88.74 254 of 254 GCLC Gamma-Glutamyl- Synthetase Deficiency AR 99.97 7 of 7 GCSH AR 93.52 1 of 1 Neurodevelopmental Disorder With , , GEMIN4 AR 99 2 of 2 And Renal Abnormalities GIF Autosomal Recessive Intrinsic Factor Deficiency - 100 NA of NA GLDC Glycine Encephalopathy AR 98.69 359 of 367 GLYCTK D-glyceric Aciduria AR 100 6 of 6 GNMT Glycine N-Methyltransferase Deficiency AR 100 5 of 5 Hyperekplexia, Hereditary , Molybdenum Deficiency, GPHN AD,AR 99.2 6 of 6 Complementation Group C 3

GRHPR Primary Hyperoxaluria Type 2 AR 88 51 of 51 GSS Synthetase Deficiency AR 100 36 of 38 Central Areolar Choroidal Dystrophy, Cone-Rod Dystrophy, GUCY2D Leber Congenital Amaurosis Type I, Congenital Stationary AD,AR 99.98 248 of 248 Night Blindness HADH 3-Hydroxyacyl-CoA Dehydrogenase Deficiency AR 96.71 26 of 27 HAL - 100 9 of 9 HCFC1 And Homocysteinemia X,XR,G 99.81 NA of NA HGD AR 100 158 of 159 HIBCH 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency AR 96.47 27 of 27 HLCS Holocarboxylase Synthetase Deficiency AR 100 47 of 47 HMGCL 3-Hydroxy-3-Methylglutaric Aciduria AR 100 54 of 54 HMGCS2 3-Hydroxy-3-Methylglutaryl-CoA Synthase-2 Deficiency AR 100 37 of 37 Fanconi Renotubular Syndrome With Maturity-Onset Diabetes HNF4A Of The Young, Hnf1b-Related Autosomal Dominant AD 100 172 of 174 Tubulointerstitial Disease HOGA1 Primary Hyperoxaluria Type 3 AR 100 42 of 42 HPD , Tyrosinemia Type III AD,AR 100 10 of 10 3-Methylglutaconic Aciduria Type VIII, Young-Onset Parkinson HTRA2 AD,AR 99.81 18 of 18 Disease D-2-Hydroxyglutaric Aciduria, Maffucci Syndrome, Ollier IDH2 AD 99.99 4 of 4 Disease IVD AR 100 105 of 105 KIF1B Charcot-Marie-Tooth Disease Axonal Type 2a1 AD 99.89 17 of 17 Hydroxykynureninuria, Vertebral, Cardiac, Renal, And Limb KYNU AR 99.98 7 of 7 Defects Syndrome L2HGDH L-2-Hydroxyglutaric Aciduria AR 100 72 of 73 LDHD Lactic Aciduria Due To D-Lactic Acid AR 100 3 of 3 LMBRD1 Methylmalonic Acidemia With Homocystinuria Type Cblf AR 99.88 8 of 8 MARS1 Charcot-Marie-Tooth Disease Axonal Type 2u AD,AR 99.98 19 of 19 MCCC1 3-Methylcrotonyl-CoA Carboxylase Deficiency AR 100 110 of 111 MCCC2 3-Methylcrotonyl-CoA Carboxylase Deficiency AR 99.98 120 of 120 MCEE Methylmalonyl-CoA Epimerase Deficiency AR 100 5 of 6 Combined Oxidative Phosphorylation Deficiency, 3- MICOS13 AR na na Methylglutaconic Aciduria Type 3 MLYCD Malonyl-CoA Decarboxylase Deficiency AR 93.84 32 of 40 MMAA Methylmalonic Aciduria Cbla Type AR 99.98 77 of 77 MMAB Methylmalonic Aciduria Cblb Type AR 99.52 43 of 43 MMACHC Methylmalonic Acidemia With Homocystinuria Type Cblc AR 99.97 105 of 105 MMADHC Methylmalonic Acidemia With Homocystinuria Type Cbld AR 99.63 20 of 20 Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase MMUT AR 99.97 NA of NA Deficiency MOCS1 Molybdenum Cofactor Deficiency Complementation Group A AR 100 36 of 37 MOCS2 Molybdenum Cofactor Deficiency Complementation Group B AR 100 32 of 32 MPC1 Mitochondrial Pyruvate Carrier Deficiency AR 100 2 of 2 MRPS2 Combined Oxidative Phosphorylation Deficieny AR 100 3 of 3 Homocystinuria Due To Deficiency Of N(5,10)-Methylene MTHFR AD,AR 100 122 of 122 Tetrahydrofolate Reductase Activity MTR Methylcobalamin Deficiency AR 99.94 42 of 45 Homocystinuria-Megaloblastic Anemia Due To Defect In MTRR AR 100 39 of 40 Cobalamin CBLE Complementation Type MVK Hyper-IgD Syndrome, Mevalonic Aciduria AD,AR 100 180 of 181 2,4-Dienoyl-CoA Reductase Deficiency, Progressive NADK2 AR 95.37 3 of 3 Encephalopathy With Leukodystrophy Due To Decr Deficiency Kanzaki Disease, Schindler Disease Type I, Alpha-n- Acetylgalactosaminidase Deficiency Type 1 , Alpha-n- NAGA AR 100 12 of 12 Acetylgalactosaminidase Deficiency Type 2, Alpha-n- Acetylgalactosaminidase Deficiency Type 3 Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, ND1 MI na na Isolated Complex I Deficiency, Mitochondrial DNA-Associated Leigh Syndrome Leber Optic Atrophy, Isolated Complex I Deficiency, Leber ND2 Hereditary , Mitochondrial DNA-Associated MI 85.56 NA of NA Leigh Syndrome Isolated Complex I Deficiency, Mitochondrial DNA-Associated ND3 - 99.99 NA of NA Leigh Syndrome

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Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, ND4 MI na na Mitochondrial DNA-Associated Leigh Syndrome Leber Optic Atrophy, Mitochondrial Myopathy, ND5 Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, MI 99.89 NA of NA Mitochondrial DNA-Associated Leigh Syndrome Leber Optic Atrophy, Mitochondrial Myopathy, ND6 Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, MI 100 NA of NA Mitochondrial DNA-Associated Leigh Syndrome Fanconi Renotubular Syndrome, Mitochondrial Complex I NDUFAF6 Deficiency Nuclear Type 17, Leigh Syndrome With AR 99.4 12 of 13 Leukodystrophy Neuraminidase Deficiency, Congenital Sialidosis Type 2, NEU1 AR 100 68 of 68 Sialidosis Type 1 Congenital Disorder Of Glycosylation, Type IV, Alacrimia- NGLY1 AR 99.8 28 of 28 Choreoathetosis- Dysfunction Syndrome Aminotransferase Deficiency, Gyrate Atrophy Of OAT AR 100 72 of 73 And OCRL Dent Disease, Lowe Oculocerebrorenal Syndrome X,XR,G 100 NA of NA Alpha-Ketoglutarate Dehydrogenase Deficiency, Oxoglutaric OGDH AR 100 1 of 1 Aciduria 3-Methylglutaconic Aciduria Type III, Autosomal Dominant OPA3 AD,AR 100 18 of 18 Optic Atrophy And Cataract OPLAH 5-Oxoprolinase Deficiency AD,AR 99.98 29 of 30 OTC Ornithine Transcarbamylase Deficiency X,XR,G 99.97 NA of NA OXCT1 Succinyl CoA-3-Oxoacid CoA Deficiency , AR 100 33 of 33 PCCA AR 100 137 of 137 PCCB Propionic Acidemia AR 99.95 136 of 138 PEPD AR 95 34 of 34 Mitochondrial Complex IV Deficiency, Leigh Syndrome With PET100 AR,MI 98 2 of 2 Leukodystrophy Peroxisome Biogenesis Disorder, Zellweger Syndrome, PEX1 AR 97.02 126 of 134 Infantile Refsum Disease, Neonatal Neonatal Adrenoleukodystrophy, Cerebrohepatorenal PEX5 AR 100 12 of 12 Syndrome, Infantile Refsum Disease, Zellweger Syndrome PLOD2 Bruck Syndrome AR 99.97 29 of 29 Mitochondrial Dna Depletion Syndrome, Sensory Ataxic POLG Neuropathy, Dysarthria, And Ophthalmoparesis, Alpers- AD,AR 99.92 325 of 326 Huttenlocher Syndrome PPM1B 2p21 Microdeletion Syndrome - 99.61 1 of 1 PRDX1 Methylmalonic Aciduria And Homocystinuria Cblc Type AR 100 3 of 3 Congenital Myasthenic Syndrome, 2p21 Microdeletion PREPL AR 99.92 7 of 12 Syndrome, Hypotonia- Syndrome PRODH Hyperprolinemia Type 1 AD,AR 98.57 5 of 5 Multiple Endocrine Neoplasia Type IIa, Multiple Endocrine RET Neoplasia Type IIb, Haddad Syndrome, Bilateral Renal AD 100 453 of 454 Agenesis Mitochondrial DNA Depletion Syndrome 8a RRM2B (Encephalomyopathic Type Withrenal Tubulopathy), Kearns- AD,AR 92.38 46 of 46 Sayre Syndrome SARDH 98.61 7 of 7 SCO1 Mitochondrial Complex IV Deficiency AR,MI 100 6 of 6 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, SERAC1 AR 99.93 53 of 53 And Leigh-like Syndrome SLC19A2 Thiamine-Responsive Megaloblastic Anemia Syndrome AR 99.99 67 of 68 SLC1A1 Dicarboxylicamino Aciduria AR 100 7 of 7 SLC25A1 Combined D-2- And L-2-Hydroxyglutaric Aciduria AR 90 23 of 25 Hyperornithinemia-Hyperammonemia-Homocitrullinuria SLC25A15 AR 100 41 of 41 Syndrome Thiamine Metabolism Dysfunction Syndrome (Bilateral Striatal SLC25A19 AR 97.13 10 of 10 Degenerationand Progressive Polyneuropathy Type) SLC25A20 Carnitine-Acylcarnitine Deficiency AR 100 39 of 39 SLC25A21 Mitochondrial DNA Depletion Syndrome AR 99.95 1 of 1 Mitochondrial DNA Depletion Syndrome (Cardiomyopathic SLC25A4 AD,AR 99.84 16 of 16 Type) SLC26A1 Calcium Oxalate Nephrolithiasis AR 99.94 4 of 4 SLC2A2 Fanconi-Bickel Syndrome AD,AR 100 75 of 79 Fanconi Renotubular Syndrome, Hypophosphatemic SLC34A1 AD,AR 100 39 of 39 Nephrolithiasis/ 5

SLC35A1 Congenital Disorder Of Glycosylation Type IIf AR 100 6 of 6 Glycinuria With Or Without Oxalate Urolithiasis, SLC36A2 AD,AR 100 1 of 1 SLC3A1 Hypotonia-Cystinuria Syndrome AD,AR 100 202 of 202 SLC52A1 Deficiency AD 99.91 2 of 2 Brown-Vialetto-Van Laere Syndrome, Autosomal Recessive SLC52A2 AR 100 31 of 32 Spinocerebellar Ataxia-blindness-deafness Syndrome SLC6A18 Iminoglycinuria - 100 NA of NA Glycinuria With Or Without Oxalate Urolithiasis, Hartnup SLC6A19 AD,AR 100 25 of 25 Disorder, Iminoglycinuria Glycinuria With Or Without Oxalate Urolithiasis, SLC6A20 AD,AR 100 1 of 1 Iminoglycinuria SLC7A7 Lysinuric Intolerance AR 100 61 of 61 SLC7A9 Cystinuria AD,AR 100 144 of 144 SPINK5 Netherton Syndrome AR 99.98 84 of 84 Mitochondrial DNA Depletion Syndrome SUCLA2 (Encephalomyopathic With Or Without Methylmalonic AR 100 27 of 27 Aciduria) Mitochondrial Dna Depletion Syndrome (Encephalomyopathic SUCLG1 AR 100 34 of 34 Type With Methylmalonic Aciduria) SUGCT Glutaric Aciduria III AR 99.85 7 of 7 Mitochondrial Complex IV Deficiency, Leigh Syndrome With TACO1 AR,MI 100 3 of 3 Leukodystrophy TAT Transaminase Deficiency, Tyrosinemia Type 2 AR 100 34 of 34 TAZ Barth Syndrome X,XR,G 100 NA of NA TCN2 Transcobalamin Deficiency AR 100 25 of 27 TIMM50 3-Methylglutaconic Aciduria Type IX AR 91 7 of 7 Mitochondrial DNA Depletion Syndrome Myopathic Form, TK2 Progressive External Ophthalmoplegia With Mitochondrial AR 97.08 64 of 65 Dna Deletions Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear TMEM70 AR 100 22 of 24 Type 2 Autosomal Recessive Osteopetrosis, Paget Disease Of Bone, TNFRSF11A AD,AR 96.37 17 of 22 Polyostotic Osteolytic Dysplasia Familial Calcium Pyrophosphate Deposition, Juvenile Paget TNFRSF11B AR 99.98 16 of 16 Disease Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-lik Episodes, Myoclonic Associated With TRNK MI na na Ragged-Red Fibers, Mitochondrial DNA-Associated Leigh Syndrome Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-lik Episodes, Myoclonic Epilepsy Associated With TRNL1 MI na na Ragged-Red Fibers, Kearns-Sayre Syndrome, Mitochondrial DNA-Associated Leigh Syndrome Mitochondrial Complex IV Deficiency, Mitochondrial DNA- TRNN AR,MI na na Related Progressive External Ophthalmoplegia Deafness, Aminoglycoside-Induced, Mitochondrial Complex IV TRNS1 Deficiency, Mitochondrial Myopathy, Encephalopathy, Lactic AR,MI na na Acidosis, And Stroke-like Episodes Retinitis Pigmentosa And Erythrocytic Microcytosis, TRNT1 Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic AR 99.47 22 of 27 ,and Developmental Delay Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, TRNV And Stroke-like Episodes, Mitochondrial DNA-Associated MI na na Leigh Syndrome Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial Myopathy, Episodic, TRNW AR,MI na na With Optic Atrophy And Reversible Leukoencephalopathy, Mitochondrial DNA-Associated Leigh Syndrome UMPS Hereditary Orotic Aciduria AR 100 11 of 11 UROC1 Urocanic Aciduria AR 100 5 of 5 XPA Xeroderma Pigmentosum Complementation Group A AR 99.91 49 of 49 XPC Xeroderma Pigmentosum Complementation Group C AR 99.83 86 of 87

*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial. **Number of clinically relevant according to HGMD

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Methodology

Contact us

Call +34 963 905 310 or send an email to [email protected] for any of the following objectives:

• Get more information about the test. • Request your kit. • Request a pick up of the kit after collecting the sample.

References 1. Vaidyanathan, K., Narayanan, M. P., & Vasudevan, D. M. (2011). Organic acidurias: an updated review. Indian journal of clinical biochemistry: IJCB, 26(4), 319–325. https://doi.org/10.1007/s12291-011-0134-2 2. Van Gosen L. (2008). Organic acidemias: a methylmalonic and propionic focus. Journal of pediatric nursing, 23(3), 225–233. https://doi.org/10.1016/j.pedn.2008.02.004 3. Pena, L., Franks, J., Chapman, K. A., Gropman, A., Ah Mew, N., Chakrapani, A., Island, E., MacLeod, E., Matern, D., Smith, B., Stagni, K., Sutton, V. R., Ueda, K., Urv, T., Venditti, C., Enns, G. M., & Summar, M. L. (2012). Natural history of propionic acidemia. Molecular genetics and metabolism, 105(1), 5–9. https://doi.org/10.1016/j.ymgme.2011.09.022 4. Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. 2012 May 17 [Updated 2016 Oct 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK92946/ 5. Fraser, J. L., & Venditti, C. P. (2016). Methylmalonic and propionic acidemias: clinical management update. Current opinion in , 28(6), 682–693. https://doi.org/10.1097/MOP.0000000000000422

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